Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features

American Journal of Human Genetics

Volumn 101, Issue 4, 2017, Pages 503-515

  Stankiewicz, Paweł ^a,b   Khan, Tahir N ^c   Szafranski, Przemyslaw ^a   Slattery, Leah ^d   Streff, Haley ^a   Vetrini, Francesco ^b   Bernstein, Jonathan A ^d   Brown, Chester W ^e,f   Rosenfeld, Jill A ^a,b   Rednam, Surya ^a,g   Scollon, Sarah ^a,g   Bergstrom, Katie L ^a,g   Parsons, Donald W ^a,g   Plon, Sharon E ^a,g   Vieira, Marta W ^h   Quaio, Caio R D C ⁱ   Baratela, Wagner A R ⁱ   Acosta Guio, Johanna C ^j   Armstrong, Ruth ^k   Mehta, Sarju G ^k   Rump, Patrick ^l   Pfundt, Rolph ^m   Lewandowski, Raymond ⁿ   Fernandes, Erica M ⁿ   Shinde, Deepali N ^o   Tang, Sha ^o   Hoyer, Juliane ^p   Zweier, Christiane ^p   Reis, André ^p   Bacino, Carlos A ^a,b   Xiao, Rui ^a,b   Breman, Amy M ^a,b   Smith, Janice L ^a,b   Katsanis, Nicholas ^c   Bostwick, Bret ^a   Popp, Bernt ^p   Davis, Erica E ^c   Yang, Yaping ^a,b   more..

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b BAYLOR GENETICS   (United States)

^c DUKE UNIVERSITY MEDICAL CENTER   (United States)

^d STANFORD UNIVERSITY   (United States)

^e UNIVERSITY OF TENNESSEE HEALTH SCIENCE CENTER   (United States)

^f LE BONHEUR CHILDREN S HOSPITAL   (United States)

^g TEXAS CHILDREN S HOSPITAL   (United States)

^h PONTIFÍCIA UNIVERSIDADE CATÓLICA DE SÃO PAULO   (Brazil)

ⁱ Fleury   (Brazil)

^j Instituto de Ortopedia Infantil Roosevelt   (Colombia)

^k ADDENBROOKE S HOSPITAL   (United Kingdom)

^l UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^m RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

ⁿ VIRGINIA COMMONWEALTH UNIVERSITY   (United States)

^o Virginia Commonwealth University ^*  (United States)

^p UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

more..

Author keywords

17q24.2 deletion; head size; intellectual disability; PSMD12; zebrafish

Indexed keywords

HISTONE H3; CELL NUCLEUS ANTIGEN; FETAL ALZHEIMER ANTIGEN; NERVE PROTEIN; TRANSCRIPTION FACTOR;

ADOLESCENT; ADULT; ANIMAL EXPERIMENT; ANIMAL MODEL; APOPTOSIS; ARTICLE; BPTF GENE; CELL PROLIFERATION; CHILD; CHROMATIN ASSEMBLY AND DISASSEMBLY; COHORT ANALYSIS; CONTROLLED STUDY; DEVELOPMENTAL DELAY; EMBRYO; FACE DYSMORPHIA; FEMALE; GENE; GENE EDITING; GENE FUNCTION; GENE SEQUENCE; GENETIC VARIABILITY; HAPLOINSUFFICIENCY; HUMAN; IN VIVO STUDY; INFORMED CONSENT; INTELLECTUAL IMPAIRMENT; LIMIT OF QUANTITATION; MALE; MICROARRAY ANALYSIS; MICROCEPHALY; MISSENSE MUTATION; NONHUMAN; PRIORITY JOURNAL; SPEECH DELAY; TUNEL ASSAY; ANIMAL; ANTAGONISTS AND INHIBITORS; CELL CULTURE; CRANIOFACIAL MALFORMATION; CRISPR CAS SYSTEM; DEVELOPMENTAL LANGUAGE DISORDER; GENE EXPRESSION REGULATION; GENETICS; GROWTH, DEVELOPMENT AND AGING; LARVA; METABOLISM; MULTIPLE MALFORMATION SYNDROME; NERVE CELL; PATHOLOGY; PHENOTYPE; PHYSIOLOGY; PRESCHOOL CHILD; ZEBRA FISH;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ANIMALS; ANTIGENS, NUCLEAR; CELL PROLIFERATION; CELLS, CULTURED; CHILD; CHILD, PRESCHOOL; CHROMATIN ASSEMBLY AND DISASSEMBLY; COHORT STUDIES; CRANIOFACIAL ABNORMALITIES; CRISPR-CAS SYSTEMS; FEMALE; GENE EDITING; GENE EXPRESSION REGULATION, DEVELOPMENTAL; HAPLOINSUFFICIENCY; HUMANS; LANGUAGE DEVELOPMENT DISORDERS; LARVA; MALE; MICROCEPHALY; NERVE TISSUE PROTEINS; NEURONS; PHENOTYPE; TRANSCRIPTION FACTORS; ZEBRAFISH;

EID: 85029696838     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2017.08.014     Document Type: Article

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